Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076083 | SCV000107098 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing a premature termination codon |
Ambry Genetics | RCV002408592 | SCV002676262 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-04-23 | criteria provided, single submitter | clinical testing | The p.E422* pathogenic mutation (also known as c.1264G>T), located in coding exon 7 of the MSH2 gene, results from a G to T substitution at nucleotide position 1264. This changes the amino acid from a glutamic acid to a stop codon within coding exon 7. This mutation was reported in a Hungarian hereditary nonpolyposis colon cancer (HNPCC) family (Tanyi M et al. World J Gastroenterol, 2006 Feb;12:1192-7). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV003452813 | SCV004186967 | pathogenic | Lynch syndrome 1 | 2023-08-01 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |